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    MFAP3 microfibril associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 4238, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MFAP3provided by HGNC
    Official Full Name
    microfibril associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:7034
    See related
    Ensembl:ENSG00000037749 MIM:600491; AllianceGenome:HGNC:7034
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be located in extracellular region. Predicted to be active in cytoplasm; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 9.1), urinary bladder (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q33.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154038967..154057450)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (154572102..154590586)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153418527..153437010)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983980 Neighboring gene family with sequence similarity 114 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23472 Neighboring gene NANOG hESC enhancer GRCh37_chr5:153465203-153465708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153486570-153487566 Neighboring gene Sharpr-MPRA regulatory region 747 Neighboring gene uncharacterized LOC124901118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153568703-153569668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153582451-153582951 Neighboring gene uncharacterized LOC107986465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153598352-153598858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153598859-153599363 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association of BMI in African Americans. Ng MC, et al. Obesity (Silver Spring), 2012 Mar. PMID 21701570, Free PMC Article
    2. Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. Abrams WR, et al. Genomics, 1995 Mar 1. PMID 7782085
    3. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
    4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article
    5. Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms. Bagci H, et al. Nat Cell Biol, 2020 Jan. PMID 31871319

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association of BMI in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp586F0219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC class II protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in interleukin-15-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    microfibril-associated glycoprotein 3
    Names
    microfibrillar associated protein 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135037.2 → NP_001128509.1  microfibril-associated glycoprotein 3 isoform 2

      See identical proteins and their annotated locations for NP_001128509.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC022088, AK296468
      Consensus CDS
      CCDS47319.1
      UniProtKB/Swiss-Prot
      P55082
      Related
      ENSP00000414219.2, ENST00000439768.2

    2. NM_001242336.2 → NP_001229265.1  microfibril-associated glycoprotein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001229265.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC010232, AC022088
      Consensus CDS
      CCDS4324.1
      UniProtKB/Swiss-Prot
      B2RDK0, B4DKA1, P55082, Q9NXA7
      Related
      ENSP00000322956.5, ENST00000322602.9
      Conserved Domains (2) summary
      smart00408
      Location:65 → 130
      IGc2; Immunoglobulin C-2 Type
      cl24079
      Location:157 → 273
      Helo_like_N; Fungal N-terminal domain of STAND proteins

    3. NM_005927.5 → NP_005918.1  microfibril-associated glycoprotein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005918.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC022088, AK296468, CB994356
      Consensus CDS
      CCDS4324.1
      UniProtKB/Swiss-Prot
      B2RDK0, B4DKA1, P55082, Q9NXA7
      Related
      ENSP00000430852.2, ENST00000522782.6
      Conserved Domains (2) summary
      smart00408
      Location:65 → 130
      IGc2; Immunoglobulin C-2 Type
      cl24079
      Location:157 → 273
      Helo_like_N; Fungal N-terminal domain of STAND proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      154038967..154057450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      154572102..154590586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55082.1 GenPept UniProtKB/Swiss-Prot:P55082

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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